Volume 14 Issue 4, April 2018

Effective drug development for infantile-onset spinal muscular atrophy (SMA) requires a meaningful understanding of disease progression and reliable biomarkers. A new report presents the results of a longitudinal, multicentre, prospective natural history study of SMA, which are critical for the research of future therapies.

In this Review, MAGNIMS provides an update on the imaging features that differentiate multiple sclerosis (MS) from its most common imaging mimics and a summary of the red-flag MRI features that indicate a diagnosis other than MS.

Approval of the first disease-modifying therapy for spinal muscular atrophy (SMA), the antisense oligonucleotide nusinersen, represents a major breakthrough in neurodegenerative disease research but also has important medical, ethical and financial implications for SMA and beyond. This Review considers the current and future landscape for SMA therapy and the challenges and opportunities that are emerging.

Villemagne and colleagues describe advances in neuroimaging using selected amyloid-β (Aβ) and tau tracers. Aβ and tau neuroimaging can identify proteinopathies in at-risk patients, facilitating the early and accurate diagnosis of neurodegenerative disease. Applications of Aβ and tau neuroimaging in staging and monitoring of disease and treatment selection are also discussed.

The epidemiology, risk factors, causes, treatment and outcomes of intracerebral haemorrhage (ICH) in young adults (aged ∼18–50 years) can differ markedly from those in elderly patients with ICH. Challenges in this setting include high early mortality and long-term mortality as well as long-term disability and ICH recurrence in survivors.